Most of you already know about our family and the unique trials we face. But just to make sure we're all on the same page, I want to give a quick overview of what life is like in the Skinner household. I apologize in advance for the length of this post...there's a lot to say!!
Claire and Benson were both born with an extremely rare genetic mutation in their liver that produces an excess amount of oxalate in their bodies. This disease is called Primary Hyperoxaluria Type 1. (PH1) Oxalate is normal in all of our bodies, but our liver only produces a small amount which then gets converted into whatever it needs to be. Their liver doesn't. Oxalate numbers in you and I is around 1.8. Claire's oxalate is around 64. Benson's is at 11.5. So what does excess oxalate do...it destroys.
The kidneys are the first to go because it is their job to filter waste from the body. In that filtering process, it can only handle the overload of oxalate for so long...until they've had enough and eventually fail. Claire has had kidney failure since she was 2 months old and has been on dialysis ever since. Significant oxalate deposits have also been found in her eyes and bones and is inevitably in other organs as well.
Benson's condition has not progressed as fast as Claire's. His kidneys are still functioning normal. No one knows why kidney failure happens when it does...and in fact, we wouldn't have known about Benson condition had Claire's diagnosis not been made. There are no signs of this disease...kidney failure is usually the first sign anyone has to tell them there's a problem. Biopsy of the kidney then shows the kidney saturated in oxalate crystals and it is then linked to PH1. Close monitoring of Benson's kidney and oxalate levels along with high doses of B6 vitamin (thought to help remove oxalate from the body) is his current treatment. Keeping him well hydrated (2 liters a day) is also very important as that helps keeps his kidneys clean and flushed of the oxalate.
Claire's treatment is a different story. She is currently on hemodialysis (done at the Children's Hospital) 6 days a week for 3 hours each day. Sunday truly is our day of rest!! Along with that, we do a different kind of dialysis, called pertineal dialysis, at home. She gets that done every night of the week for 12 hours (while she's sleeping). Ultimately, dialysis 24/7 would be ideal for Claire to remove the oxalate that is constantly being built up in her body. Obviously, that is not possible...so we do as much as we can! Dialysis is the only way, besides the B6 vitamin, to remove oxalate.
The ultimate cure: transplant! For Claire, getting a new kidney or liver alone will not solve the problem. She needs both. A new liver will stop the excessive oxalate production and new kidneys will allow her to be done with dialysis! With Benson, we are hoping we can salvage his kidneys by monitoring his kidney and oxalate levels closely and transplanting his liver before it causes damage. When to transplant his liver is still a big question.
And that's how things go around here!! Many questions are still unanswered but we are simply doing ALL we can to keep our beautiful kids happy and healthy (aren't we all?!!)
With all that said (and much more to come in future posts...remember that was just to catch everyone up to speed with the last 10 months of our lives!) for Clarie's one-year birthday, Sept. 8, I took our camera to the hospital to video what a day in the life of a not-so-typical one-year old was like! Since Jared and I are the only ones who take Claire to hemodialysis each day, I thought I'd give you a little insight to what it's all about. I must warn you, the video is rather long...sorry about that. Just be happy I didn't record the whole 3 hours we are there! Make sure you are sitting around with nothing else to do (ha ha) before you embark on this adventure! Later, I'll posts pictures of the pertineal dialysis we do at home to let you know what that's all about too!
Enjoy!
